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Marketing Medicine? Informed consent in the advent of Direct-to-Consumer Genetic Testing – by Rhiannon Frowde

Direct-to-Consumer Genetic Testing (DTC-GT) has emerged as a rapidly growing industry, with the market being valued at £680m in 2018, and is anticipated to reach over £5000m by 2028.[1] 

DTC companies offer genetic tests directly to consumers online, promising to reveal their genetic profile. DTC-GT operates within the intersection of two different sectors: medicine and the market. Typically, medical services are highly regulated, requiring the demonstration of the patient’s informed consent, whereas commercial practices require only that information be truthful, complying with consumer standards, often satisfied through terms of service agreements. While DTC-GT services are marketed as purely informational, not medical, the nature of the tests challenge this position by revealing information about susceptibility to, and carrier status of, serious health conditions. 

This blog considers whether DTC-GT services can be purely commercial, and if not, what the appropriate standard of information disclosure and consent should be. 

Genetic Testing  

Genetic testing performed in a clinical context requires the involvement of a healthcare practitioner to ensure informed consent,  which is understood to be the communication and comprehension of all material risks. This includes the testing procedure, benefits and limitations of the test, and possible consequences of the test results.  

Informed consent aims to promote autonomous decision making, but also to protect individuals from harm.  

By ensuring patients fully understand the information, they are considered to be enabled to make free and voluntary decisions in accordance with their own values, shifting away from a ‘doctor knows best’ standard and protecting against involuntary testing.  

In DTC-GT, however, it is not clear this standard is met. 

DTC-GT and Informed Consent 

Companies sell cheek swab test kits for around £200 online. Hundreds of genetic traits are tested for, and while some are trivial (e.g. ancestry), many concern serious health conditions, such as Alzheimer’s, Huntingdon’s, or cancer.  

The harms in DTC-GT are not in taking the swab test itself, but in generating and communicating the test results.  

Information presented on company websites is not impartial, with positive aspects overemphasised, and some details hidden in the fine print. As such, customers can be deceived and misled. Many DTC-GT tests are of limited predictive value, not taking into account environmental factors, and have low clinical validity and utility.[2] Without a healthcare professional, the results may be over- or under-interpreted.  

Despite studies suggesting the potential harms of testing are limited, many report severe anxiety following a positive result, especially in non-treatable conditions.[3] Informed consent will minimise misinformation, and prepare individuals for the possible long-term implications, mitigating harms. Studies have in fact found that individuals often lose interest in genetic testing once fully informed about the limitations and risks.[4] 

Even if the information were accurate, fully explaining the traits tested for, test characteristics, and associated risk, involves vast amounts of information. The quantity and complexity can be overwhelming, especially without a healthcare professional’s support, undermining the aim of informed consent.[5]  

It may be suggested, however, that commercial companies should not be governed by standards found in the medical profession. This raises the question of whether DTC companies can truly be regarded as non-medical.

Consumer or medical service? – The place of informed consent in DTC-GT

Standards for communication of information differ greatly between medical and commercial domains, as does the underlying assumption of autonomy and responsibility.  

Medical principles focus on respecting patient autonomy, emphasising informed consent, whereas in commercial situations, customers are presumed to be autonomous and rational, justifying information being presented persuasively.  

DTC-GT companies currently adopt a commercial standard, using Terms-of-Service (TOS) agreements to communicate information. Customers are required to tick a box, indicating they read, understood and agreed to the TOS. This is not aimed at protecting their autonomy, but rather protecting the company from liability. The text is in fine print, and worded in a legal manner, which is not easily intelligible to lay persons. Companies portray themselves as providing tests for informational or educational purposes, often explicitly stating that they should not be relied upon for medical purposes.  

Presented as a risky consumer service, instead of a medical service, the absence of well-presented information to ensure fully informed consent would be permissible. 

However, it would be wrong to regard DTC services as non-medical, despite disclaimers. Promoting these tests as enabling customers to make better informed decisions about their health, and pursue better lifestyles, seems to suggest a form of medical testing. Often customers may misinterpret their results as diagnostic. With DTC-GT being expected to gain greater validity in the future, results may in fact become clinically useful, meaningfully influencing customers’ lives. Whilst a commercial practice, DTC-GT  has medical applications, and as such may have serious consequences. 

It is important to have informed consent standards to expose advertising strategies, emphasise limitation, manage expectations and protect individuals from unprecedented harms. The emphasis on positive information, and hard to access TOS, does not sufficiently protect customers. Additionally, TOS do not prevent involuntary testing, where a sample is sent in from someone other than the individual buying the test without their consent. It may state it is wrong, but the warnings can be easily overlooked and bypassed.  

What standard of information should be required?

The blurred boundaries between commercial and medical practice require higher standards of regulation. DTC-GT cannot be regarded as purely informational when testing for medical conditions, despite occurring in a commercial context. Commercial standards like TOS do not respect individual autonomy and mitigate harms, and as such do not satisfy the requirements of informed consent.  

Considering the nature of the tests, gaining consent should be more rigorous than simply ticking a box,, however it does not necessarily require the involvement of a medical professional. It is unrealistic to expect that online companies guarantee that consumers understand all the information. However, they should adopt a customer-centred informed consent model, where information is complete and objective, rather than including TOS merely for liability purposes. 

References: 

[1] Research and Markets Report, ‘Global Direct-to-Consumer Genetic Testing Market by Product Type, Distribution Channel, 15 Countries Mapping, and Competitive Landscape – Analysis and Forecast, 2019-2028’ (BIS Research, 2019) <https://www.researchandmarkets.com/reports/4771288/global-direct-to-consumer-genetic-testing-dtc?utm_source=GNDIY&utm_medium=PressRelease&utm_code=zkl5jf&utm_campaign=1249727+-+Global+%246.3+Bn+Direct-to-Consumer+Genetic+Testing+(DTC-GT)+Market+to+2028&utm_exec=chdo54prdonsumer+Genetic+Testing+(DTC-GT)+Market+to+2028&utm_exec=chdo54prd> accessed 07 April 2020. 

[2] Matthews R, Hall W, Carter A, ‘Direct-to-consumer genetic testing for addiction susceptibility: a premature commercialisation of doubtful validity and value’ (2012) 107(12) Addiction 2069. 

[3] Eissenberg J, ‘Direct-to-consumer genomics: Harmful or empowering? (2017) 114(1) Missouri Medicine 26. 

[4] Schwartz M, Benkendorf J, Lerman C et al., ‘Impact of educational print materials on knowledge, attitudes, and interest in BRCA1/BRCA2: testing among Ashkenazi Jewish women’ (2001) 92 Cancer 932. 

[5] Singleton A, Hamby Erby L, Foisie K et al., ‘Informed Choice in Direct-to-Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits, Risk and Limitations’ (2011) 21(3) Journal of Genetic Counselling 433.  


Rhiannon Frowde is a Research Associate in the School of Law at the University of Edinburgh, having graduated from her LLM in Medical Law and Ethics in 2020. She is pursuing a career at the Bar specialising in clinical negligence and personal injury, currently reading the BPTC and due to start pupillage at Hailsham Chambers in 2022.

 


 Image by Braňo on Unsplash

 

 

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